Canonical Allele Identifier: CA3933365

Gene: FBXL4

Linked Data

• ClinVar Variation Id: 1895612
• ClinVar RCV Id: RCV002571706
• dbSNP Id: rs377666976
• ExAC: 6:99322328 GAAACAAAACA / G
• gnomAD v2: 6-99322328-GAAACAAAACA-G
• gnomAD v3: 6-98874452-GAAACAAAACA-G
• gnomAD v4: 6-98874452-GAAACAAAACA-G
• MyVariant Identifiers: chr6:g.99322334_99322343del (hg19) ; chr6:g.99322329_99322338del (hg19) ; chr6:g.98874458_98874467del (hg38) ; chr6:g.98874453_98874462del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.98874468_98874477del , CM000668.2:g.98874468_98874477del	GRCh38
NC_000006.11:g.99322344_99322353del , CM000668.1:g.99322344_99322353del	GRCh37
NC_000006.10:g.99429065_99429074del	NCBI36
NG_033903.1:g.78545_78554del

Transcript Alleles

HGVS	Amino-acid change
ENST00000369244.7:c.1703-21_1703-12del MANE Select	ENSP00000358247.1:n.1703-21_1703-12del
ENST00000229971.2:c.1703-21_1703-12del	ENSP00000229971.1:n.1703-21_1703-12del
ENST00000369244.6:c.1703-21_1703-12del	ENSP00000358247.1:n.1703-21_1703-12del
NM_001278716.1:c.1703-21_1703-12del	NP_001265645.1:n.1703-21_1703-12del
NM_012160.4:c.1703-21_1703-12del	NP_036292.2:n.1703-21_1703-12del
NR_103836.1:n.1748-21_1748-12del
XM_005266930.1:c.1631-21_1631-12del	XP_005266987.1:n.1631-21_1631-12del
XM_005266930.3:c.1631-21_1631-12del	XP_005266987.1:n.1631-21_1631-12del
XM_017010726.1:c.1703-21_1703-12del	XP_016866215.1:n.1703-21_1703-12del
XM_017010727.2:c.1631-21_1631-12del	XP_016866216.1:n.1631-21_1631-12del
XM_017010728.1:c.977-21_977-12del	XP_016866217.1:n.977-21_977-12del
NM_001278716.2:c.1703-21_1703-12del MANE Select	NP_001265645.1:n.1703-21_1703-12del
NR_103836.2:n.1688-21_1688-12del
NM_012160.5:c.1703-21_1703-12del	NP_036292.2:n.1703-21_1703-12del